Incidental Mutation 'R6718:Asb8'
| ID |
529471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb8
|
| Ensembl Gene |
ENSMUSG00000048175 |
| Gene Name |
ankyrin repeat and SOCS box-containing 8 |
| Synonyms |
4930539L19Rik, C430011H06Rik |
| MMRRC Submission |
044836-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98032518-98063476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98034015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 180
(I180T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051226]
[ENSMUST00000059112]
[ENSMUST00000123626]
[ENSMUST00000123922]
[ENSMUST00000143400]
[ENSMUST00000163507]
[ENSMUST00000230445]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051226
|
| SMART Domains |
Protein: ENSMUSP00000059801
Gene: ENSMUSG00000033065
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
17 |
324 |
1.3e-111 |
PFAM |
|
Pfam:PFK
|
402 |
687 |
1e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059112
AA Change: I180T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000057864
Gene: ENSMUSG00000048175
AA Change: I180T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123626
AA Change: I180T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000121383
Gene: ENSMUSG00000048175
AA Change: I180T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123922
AA Change: I180T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000119481
Gene: ENSMUSG00000048175
AA Change: I180T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143400
AA Change: I180T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000115813
Gene: ENSMUSG00000048175
AA Change: I180T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
20 |
49 |
5e-13 |
BLAST |
|
ANK
|
52 |
81 |
4.5e-3 |
SMART |
|
ANK
|
85 |
113 |
1.22e-4 |
SMART |
|
ANK
|
117 |
146 |
1.81e-7 |
SMART |
|
ANK
|
150 |
179 |
2.45e-4 |
SMART |
|
SOCS_box
|
247 |
287 |
2.08e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163507
|
| SMART Domains |
Protein: ENSMUSP00000132803
Gene: ENSMUSG00000033065
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PFK
|
16 |
326 |
2.9e-138 |
PFAM |
|
Pfam:PFK
|
401 |
688 |
1.8e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230445
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
A |
18: 67,554,346 (GRCm39) |
T452I |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,835 (GRCm39) |
T45A |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,606,887 (GRCm39) |
Y512F |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,560,884 (GRCm39) |
F38S |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,698 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
TATGCTGCTG |
TATGCTGCTGATGCTGCTG |
15: 98,747,467 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,420 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,314,124 (GRCm39) |
H2202Q |
probably benign |
Het |
| Maf |
C |
A |
8: 116,433,539 (GRCm39) |
V22F |
unknown |
Het |
| Mrgpra3 |
C |
T |
7: 47,239,444 (GRCm39) |
V161M |
probably benign |
Het |
| Or7g33 |
G |
T |
9: 19,448,495 (GRCm39) |
H244N |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,412 (GRCm39) |
|
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pex11a |
A |
G |
7: 79,387,230 (GRCm39) |
F201L |
probably benign |
Het |
| Pigu |
A |
G |
2: 155,143,206 (GRCm39) |
Y232H |
possibly damaging |
Het |
| Pms2 |
T |
C |
5: 143,860,307 (GRCm39) |
I40T |
probably damaging |
Het |
| Pura |
A |
G |
18: 36,420,696 (GRCm39) |
N161S |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,501,260 (GRCm39) |
V330A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,490,443 (GRCm39) |
V218A |
probably damaging |
Het |
| Spindoc |
C |
T |
19: 7,335,781 (GRCm39) |
V336I |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,726,198 (GRCm39) |
T483A |
probably benign |
Het |
|
| Other mutations in Asb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:Asb8
|
APN |
15 |
98,039,159 (GRCm39) |
splice site |
probably benign |
|
|
IGL01367:Asb8
|
APN |
15 |
98,034,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01375:Asb8
|
APN |
15 |
98,039,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03007:Asb8
|
APN |
15 |
98,040,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03192:Asb8
|
APN |
15 |
98,033,776 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0025:Asb8
|
UTSW |
15 |
98,040,552 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1405:Asb8
|
UTSW |
15 |
98,039,248 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1405:Asb8
|
UTSW |
15 |
98,039,248 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1406:Asb8
|
UTSW |
15 |
98,034,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Asb8
|
UTSW |
15 |
98,034,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Asb8
|
UTSW |
15 |
98,034,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1958:Asb8
|
UTSW |
15 |
98,034,097 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2049:Asb8
|
UTSW |
15 |
98,033,950 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Asb8
|
UTSW |
15 |
98,039,254 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4448:Asb8
|
UTSW |
15 |
98,039,211 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5835:Asb8
|
UTSW |
15 |
98,034,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6092:Asb8
|
UTSW |
15 |
98,034,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7052:Asb8
|
UTSW |
15 |
98,034,282 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7901:Asb8
|
UTSW |
15 |
98,040,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8690:Asb8
|
UTSW |
15 |
98,034,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Asb8
|
UTSW |
15 |
98,040,635 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGCTGCTGGTCTTTGG -3'
(R):5'- CTACTGGAGTATGGGGCAAACC -3'
Sequencing Primer
(F):5'- GTCACTTCTCGGGGCATG -3'
(R):5'- AGAGACACCCCGCTTCATTGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation